Angelman syndrome

Background

• In 1/12,000- 1/25,000 children.
• Genetic disorder, loss of function in UBE3A gene on chromosome 15.
• Clinical features apparent after birth, usually within age of 1 or 2 years old.

Clinics

• Delayed psychomotor development.
• In early years often smiling: ‘Happy puppet syndrome’.
• Overeating.
• Sleep disturbances.
• Microcephaly, large tongue and hypersalivation.
• 90% of the patients have seizures ; usually tonic or atone seizures, or absences.
• Vulnerable to infections.

EEG

• Frontal slowing
• Rhytmic discharges in 2-4Hz predominently in the frontal and/or occipital regions.
• Occipital discharges can be triggered by closing th eyes.
• EEG similar in patients wit hand without seizures.

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Angelman syndrome in an 8-year-old girl (source) with frontal slowing together with occipital and frontal spikes and slow wave complexes, not synchrone

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